| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 98 +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Tooth agenesis, selective, 10 | |
| | | Single nucleotide variant (missense variant) | TSPEAR-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | |
| | | Microsatellite (inframe_deletion) | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +1 more | GConflicting classifications of pathogenicity |
| | LOC126653398, TSPEAR
+1 more (K577fs +1 more) | Deletion (frameshift variant) | Tooth agenesis, selective, 10 | |
| | LOC126653398, TSPEAR
+1 more (Q555* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Tooth agenesis, selective, 10 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Tooth agenesis, selective, 10 | |
| | | Single nucleotide variant (missense variant) | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | |
| | | Deletion (5 prime UTR variant +1 more) | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | |